Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

doi:10.1016/j.ajhg.2018.02.012

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Article

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

American journal of human genetics - 5 Apr 2018

Gardeitchik Thatjana, Mohamed Miski, Ruzzenente Benedetta, Karall Daniela, Guerrero-Castillo Sergio, Dalloyaux Daisy, van den Brand Mariël, van Kraaij Sanne, van Asbeck Ellyze, Assouline Zahra, Rio Marlene, de Lonlay Pascale, Scholl-Buergi Sabine, Wolthuis David F G J, Hoischen Alexander, Rodenburg Richard J, Sperl Wolfgang, Urban Zsolt, Brandt Ulrich, Mayr Johannes A, Wong Sunnie, de Brouwer Arjan P M, Nijtmans Leo, Munnich Arnold, Rötig Agnès, Wevers Ron A, Metodiev Metodi D, Morava Eva

Abstract excerpt

Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in the mitochondrial matrix. These mitoribosomes are dual-origin ribonucleoprotein complexes, which contain mtDNA-encoded rRNAs and tRNAs and ∼80 nucleus-encoded proteins. An increasing...

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Identifiers

PMID: 29576219
DOI: 10.1016/j.ajhg.2018.02.012
PMCID: PMC5985281

Genes

MRPS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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